Incidental Mutation 'IGL03082:Ncr1'
| ID |
417928 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ncr1
|
| Ensembl Gene |
ENSMUSG00000062524 |
| Gene Name |
natural cytotoxicity triggering receptor 1 |
| Synonyms |
Ly94, NKp46, MAR1 (mouse activating receptor 1), Cd335 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL03082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
4340723-4348163 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 4344241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006792]
[ENSMUST00000126417]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006792
|
| SMART Domains |
Protein: ENSMUSP00000006792
Gene: ENSMUSG00000062524
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
IG
|
34 |
118 |
5.21e-2 |
SMART |
|
IG
|
129 |
211 |
1.49e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126417
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic1 |
T |
A |
15: 99,594,428 (GRCm39) |
N324K |
probably benign |
Het |
| Atpaf2 |
T |
C |
11: 60,294,670 (GRCm39) |
E251G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,821,190 (GRCm39) |
K1109E |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chst1 |
C |
T |
2: 92,444,278 (GRCm39) |
T250I |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,753,760 (GRCm39) |
L406P |
probably damaging |
Het |
| Cryz |
A |
G |
3: 154,310,563 (GRCm39) |
M8V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,045,459 (GRCm39) |
E438G |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,077 (GRCm39) |
I71T |
probably benign |
Het |
| Eml2 |
T |
A |
7: 18,935,802 (GRCm39) |
Y679N |
probably damaging |
Het |
| Fam185a |
G |
A |
5: 21,660,836 (GRCm39) |
V284I |
possibly damaging |
Het |
| Fpgs |
C |
T |
2: 32,575,769 (GRCm39) |
W391* |
probably null |
Het |
| Hdac11 |
C |
T |
6: 91,150,085 (GRCm39) |
P295S |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,835,671 (GRCm39) |
I3260F |
probably benign |
Het |
| Hltf |
G |
A |
3: 20,118,723 (GRCm39) |
|
probably benign |
Het |
| Immp2l |
T |
G |
12: 41,160,900 (GRCm39) |
V66G |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,460,931 (GRCm39) |
I519T |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,029,661 (GRCm39) |
T402A |
probably benign |
Het |
| Mttp |
T |
G |
3: 137,829,556 (GRCm39) |
I111L |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,441,805 (GRCm39) |
I1987F |
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,584,676 (GRCm39) |
|
probably null |
Het |
| Nherf4 |
A |
T |
9: 44,162,083 (GRCm39) |
S39T |
possibly damaging |
Het |
| Nnt |
A |
G |
13: 119,533,404 (GRCm39) |
F87S |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,115,878 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,635,857 (GRCm39) |
I491N |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,473 (GRCm39) |
I311V |
probably damaging |
Het |
| Pou2f3 |
C |
A |
9: 43,058,212 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
G |
A |
1: 153,675,693 (GRCm39) |
T836I |
possibly damaging |
Het |
| Rttn |
G |
A |
18: 89,002,072 (GRCm39) |
G328D |
probably damaging |
Het |
| Serpina11 |
T |
C |
12: 103,952,560 (GRCm39) |
E77G |
probably benign |
Het |
| Slc35f1 |
G |
A |
10: 52,809,234 (GRCm39) |
V74I |
probably benign |
Het |
| Slc7a6 |
A |
G |
8: 106,919,854 (GRCm39) |
|
probably null |
Het |
| Smco2 |
A |
G |
6: 146,761,542 (GRCm39) |
T154A |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,706,422 (GRCm39) |
Y1033C |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,227,847 (GRCm39) |
F100S |
possibly damaging |
Het |
| Tssk4 |
T |
C |
14: 55,888,518 (GRCm39) |
F129S |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,945,336 (GRCm39) |
T315I |
probably damaging |
Het |
|
| Other mutations in Ncr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Ncr1
|
APN |
7 |
4,344,287 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01994:Ncr1
|
APN |
7 |
4,344,253 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02163:Ncr1
|
APN |
7 |
4,344,262 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02610:Ncr1
|
APN |
7 |
4,341,132 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02885:Ncr1
|
APN |
7 |
4,341,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Ncr1
|
UTSW |
7 |
4,343,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1172:Ncr1
|
UTSW |
7 |
4,341,120 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1758:Ncr1
|
UTSW |
7 |
4,343,807 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2065:Ncr1
|
UTSW |
7 |
4,341,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2135:Ncr1
|
UTSW |
7 |
4,343,756 (GRCm39) |
splice site |
probably benign |
|
|
R2397:Ncr1
|
UTSW |
7 |
4,341,260 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5389:Ncr1
|
UTSW |
7 |
4,343,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5648:Ncr1
|
UTSW |
7 |
4,347,519 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5690:Ncr1
|
UTSW |
7 |
4,341,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5817:Ncr1
|
UTSW |
7 |
4,343,894 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5847:Ncr1
|
UTSW |
7 |
4,347,573 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7033:Ncr1
|
UTSW |
7 |
4,341,144 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7391:Ncr1
|
UTSW |
7 |
4,347,470 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7395:Ncr1
|
UTSW |
7 |
4,341,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7680:Ncr1
|
UTSW |
7 |
4,341,123 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8163:Ncr1
|
UTSW |
7 |
4,343,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8472:Ncr1
|
UTSW |
7 |
4,341,120 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8782:Ncr1
|
UTSW |
7 |
4,340,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8880:Ncr1
|
UTSW |
7 |
4,341,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9066:Ncr1
|
UTSW |
7 |
4,347,552 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9789:Ncr1
|
UTSW |
7 |
4,344,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation